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Breaking symmetry: a clinical overview of left‐right patterning
Author(s) -
Maclean K,
Dunwoodie SL
Publication year - 2004
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.0009-9163.2004.00258.x
Subject(s) - embryology , disease , polycystic kidney disease , medicine , genetics , biology , bioinformatics
It is increasingly recognized that mutations in genes and pathways critical for left‐right (L‐R) patterning are involved in common isolated congenital malformations such as congenital heart disease, biliary tract anomalies, renal polycystic disease, and malrotation of the intestine, indicating that disorders of L‐R development are far more common than a 1 in 10,000 incidence of heterotaxia might suggest. Understanding L‐R patterning disorders requires knowledge of molecular biology, embryology, pediatrics, and internal medicine and is relevant to day‐to‐day clinical genetics practice. We have reviewed data from mammalian (human and mouse) L‐R patterning disorders to provide a clinically oriented perspective that might afford the clinician or researcher additional insights into this diagnostically challenging area.